Basic information of TYK2 :
| Official Symbol of Gene | TYK2 |
| Species | Homo sapiens |
| Entrez Gene ID | 12440 |
| Official Full Name | tyrosine kinase 2 |
| Also known as | JTK1; IMD35 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000105397 MIM:176941; AllianceGenome:HGNC:12440 |
| Map Location | 19p13.2 |
| Variation Type | SNP |
| refSNP ID | rs34536443 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | TaqManã€PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 4234 MS cases and 2983 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 19293837 |
| Year | 2009 |
| Title | Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | we found that evidence for association was substantially increased for one of the 17 loci, rs34536443 from the tyrosine kinase 2 (TYK2) gene (P=2.7 x 10(-6), odds ratio=1.32 (1.17-1.47)) |
| Mechanism/Pathway | This single nucleotide polymorphism results in an amino acid substitution (proline to alanine) in the kinase domain of TYK2, which is predicted to influence the levels of phosphorylation and therefore activity of the protein and so is likely to have a functional role in multiple sclerosis. |
